Surviving the Holidays with Mitochondrial Disease

As this Christmas day comes to an end, I decided to do something I haven't done in ages...  Write a blog post.

This is actually really surprising because of how exhausted I am.  However, I wanted to share with everyone what the holidays are like for someone who's chronically ill.  You always hear people saying how difficult this time of year is, how tiring it is, and of course how financially draining it is.  I have written many blog posts about how difficult, tiring, and financially draining chronic illness/mitochondrial disease is.  Now, add the holidays to all of that.

For you, stopping at a store on your way home from work or going shopping on a Saturday is no big deal.  For someone with a chronic illness such as mitochondrial disease, it has to be a planned out event with nothing else on the schedule for that day and most lie.

Think of the spoon theory for a moment.  (Don't remember or haven't read it? Click here to read it again)  On a normal day, every spoon is accounted for.  In fact, in my case, I am going into the negative by the time my husband gets home from work.  So, where does the energy come from to put up decorations, plan out a meal, wrap presents, go shopping, cook a large meal, make sugar cookies with the kids, take them shopping, attend family functions, fix food for said functions, etc., etc.???  Yeah, I don't know either.

So what do those with Mitochondrial disease do do?  We borrow spoons... from the next day and the day after that and the day after that.  Or, we reach deep into the spoon vault that houses the spoons we've saved up for just that special occasion.  Neither one of these solutions works very well.  If we have to borrow spoons, they have to be "paid back" on the day we borrowed them from and the interest is extremely high (i.e. massive body shut down, unable to get out of bed, pain, nausea, vomiting, muscle weakness, etc. etc.).  If we push through it and use what we keep stored for a special occasion, we won't have anything left for said special occasion.  Sooo... my kids have wrapped presents under the tree, but I won't be there to see them being opened because I'm too sick from getting them there.

Too many times people with chronic illness compare themselves to others and what they're doing during the holidays.  Then the guilt comes.  We can't do what everyone else is doing the rest of the year (play sports, exercise, work, clean the house, etc.).  So why would we magically be able to keep up with everyone else during the holidays?  STOP TRYING!!!

Take myself, for instance.  I always tell myself, "One holiday at a time."  That one I'm pretty good at holding myself to.  So there's Halloween, which we're very active in, Thanksgiving, my daughter's birthday in the end of Nov., and then Christmas.  This year, my daughter decided to have her party 2 weeks after her birthday in hopes that more people would be able to come since it wouldn't interfere with Thanksgiving.  So, we did the first 2 holidays followed by my daughter's birthday.  As it was her 16th, I was much more involved than I have been for a few years.  I wanted to make sure she had an awesome birthday because of everything she's been going through.  The birthday party came and went.  Then it was time to work on Chris t m  a  s    s   h     o      p       p ....  BAM!

Yep, that was me hitting a wall.  After many months of doing more than I knew my body could handle and a couple of weeks doing way more than my body could handle, I crashed... hard.  For about 2 weeks I was barely able to walk to the bathroom because I was so weak and felt so bad.  Christmas shopping was out of the question.  Yes, I'm fully aware of online shopping, but even that takes energy when you have to figure out what you can get, how much you can spend, how in the hell you're going to make that amount look like more than it is, what you're giving and what Santa is giving, etc.

After all of that, add in dealing my daughter's teachers who aren't cooperating with her 504 plan, taking care of her while she continues to have seizures even with 2 meds at max dose, a doctor telling me 2 1/2 weeks before Christmas that I have to pay a large portion of his bill or he'll stop putting pain meds in my intrathecal pump, continued family stress, and receiving some very bad news. (God, I wonder why I have been so sick!)  Needless to say, I was rushing around on Christmas Eve to finish shopping and getting things done.

As you can imagine, I wasn't able to enjoy the day today as much as I would have liked.

So...  if you're the family member of someone with a chronic illness like mitochondrial disease, please give them a break during the holidays.  Hell, give them a break all year.  Especially if they are taking care of a sick child too.

If you yourself has mito, POTS, gastroparesis, or any other chronic illness, be sure to follow a few simple rules during the holidays...

1. Take care of yourself!!!  (Notice that that's number 1)
2. Don't compare what you're doing with what someone healthy is doing.
3. Along those same lines, don't worry about what ANYONE thinks. 
4. Ask for help.  (This is a tough one for me)
5. Plan ahead
6. Start early!!!  (don't put yourself in the position I was in this year... start creating lists months ahead of time and pick stuff up here and there)

I hope you all had a great Christmas and had enough spoons to enjoy your day.

Mothering with Chronic Illness

Well, obviously I haven't been up for writing recently. Actually, that's not accurate. I have felt like writing, but have used my spoons on other things instead... like taking care of my girls, attending soccer games, etc.

I have a friend who lives with mito while also taking care of her daughter, who has mito.  On Mother's Day she sent this to myself and a few other mito moms (which means we're either suffering from mito while raising our kids or a mother of a child with mito... sometimes both).  I wanted to share it because it was so beautifully true.  While reading it I felt like she was taking the words right out of my mouth.  So, instead of saying some of the same things on a blog post, I will give credit where credit's due.

Angelique Surguy-Hershey wrote:

You are amazing, beautiful women who struggle every day raising growing children while you are chronically ill (and some of you while your child(ren) are ill too). You know how hard motherhood is more than anyone. You know how amazing it is. You may feel guilty sometimes because you can't do what you thought you'd be able to as a mom at times. You work twice (or more) as hard as other moms and often feel like you come up short. You feel horrible with a plethora of symptoms. You may be in and out of the hospital. You often push on because you are a mom first and sick second. You sometimes fear you may not live to see your child(ren) grow up and worry will they be taken care of. This is a reality thankfully a lot of moms don't understand. Despite how hard it is, despite how your health sometimes suffers, despite your fears, you would never change it. You love your child(ren). You are a beautiful angel! You are amazing! You do remarkable things! Don't ever doubt that! You are as much a gift to your children as they are to you! I am blessed to know so many Super Spoonie Moms. Enjoy this day honoring you because you deserve it more than anyone.

______________________________________________________________

She is a sweet person, a good support, and great with words... like me, of course (the great with words part).  She hit the nail on the head.  Being a mom is one of the hardest jobs, as all of us moms already know. When you add chronic illness, it is extremely difficult.

Those of us with a severe chronic illness are unable to hold a job because of it.  However, motherhood is our constant job, 24/7, sick or not.  Most people call in sick to work when they have a cold.  Motherhood doesn't allow sick days, no matter how sick you are. We have to work no matter how horrible we feel, and a cold doesn't hold a candle to Mitochondrial disease. We push through the pain, fatigue, nausea, muscle weakness, and many other symptoms to make sure our kids are taken care of.  Why?  Because we love our children more than anything else in this world.

We live with constant guilt.  For the most part I am okay with the things that I'm missing out on (running, working, etc.), but of course we all have our days.  What I can't deal with, however, is saying "no" to my beautiful daughters all the time.  My 7 year old doesn't understand.  My 15 year old understands, which helps, but she also remembers what I was like before mito took so many things from us.  Sometimes it's even the little things that induce guilt, like not being able to fix their sack lunch or help put p.j.s on at the end of the day.

We worry that we won't be around for our daughter's wedding or our son's graduation.  Moms without mito or other progressive disease don't have that in the back of their minds everyday.  As we say "no" when our kids ask us if we will play outside, it's not just guilt that we experience.  We also think, "Should I just try to do it and make myself more sick because who knows how much time I'll have?"

To my friends raising a sick child while you're sick also, I praise you.  I praise you. I praise you.  You are my heroes.  I don't know how you do it everyday.  I can barely take care of my kids and they're healthy. One of my dear friends has 3 adorable little boys.  Two of them have mito and the third has some other problem(s). She is taking care of all three without the help of their dad because they're divorcing and he lives out of state. AND... if that wasn't enough... she has mitochondrial disease too.  I look up to her every single day.  She's an amazing mother.

If you are sick and you're taking care of your children who're also sick, IMMEDIATELY after reading this, go treat yourself to something. Examples: Massage, some time alone, coffee with a friend, a nap, a bowl of ice cream, a carton of ice cream, etc.  I am fully aware that you can't just stop what you're doing and go get a massage, but PLEASE do something for yourself, ASAP.

If you're a healthy mother of a sick child(ren) and you haven't done something for yourself recently, do it!  Bare minimum, go eat some ice cream and watch a movie or, better yet, go for a run.

If you're a healthy mother, with healthy kids, give yourself a huge pat on the back and hug your kids.

Happy Belated Mother's Day to all the mothers I know.

Sick and disabled people are...

Today, I'd just like to share a picture.

The picture was created by a woman with Mitochondrial Disease.  She was doing a project in which she's supposed to do a self portrait that makes a statement about society.  The picture below is the result.  It is a very profound statement so I wanted to share.

If you can't see the print at the top, it's a google search that says, "disabled people are". The auto-complete on google gives 4 options...
Disabled people are... annoying
Disabled people are... useless
Disabled people are... rude
Disabled people are... a burden to society

If you go to google right now and test it, you will find that nothing comes up in auto-complete.  She completed the project last November.  Google has since deleted the auto-correct.
Here's an article that mentions the awful things that can be found on google's auto-correct - "Girls and women should be seen and not heard"

The auto-correct feature on google represents the searches used the most.  It is so sad to see those phrases come up as the most common things searched for after "disabled people are".

It's sad, but true.  The majority of people look down on disabled people (no pun intended... but still funny.. ha ha).  We're stared at because we're different.  We're stared at because people are curious.  We're stared at because we're being judged.

We know what people are thinking, because every now and then it's shared...
 
"Why are you parking in handicapped when you're so young and can walk?"
"You can walk, but you're using a wheelchair... Are you lazy?  You're so young and you don't look sick."
"There's another person that I'm supporting with my hard earned money."

If someone is staring at a disabled person, and the disabled person says something about it, who is the rude one?  I'm sure everyone's response is, "Obviously, the person staring".  However, in that moment, it is usually the disabled person who is looked down upon and judged for commenting about it.

I do think that the world is a better place than it was 25, 50, and 100 years ago, but we still have a ways to go.  Judging people for being different is nothing new.  That doesn't mean it should continue.

Black, white, or purple, we're all equal.
Gay, straight, or trisexual, we're all equal.
Jewish, Christian, Muslim, Atheist, or Pastafarian (wiki it if you're not familiar) we're all equal.
Healthy, chronically ill, or suffering from a cold, we're all equal.

Able bodied or disabled... We are ALL equal.

Do NOT judge people because they are different than you!!!

The Hell that Justina is going through

The following is an article by Mat Staver, the Founder and Chairman of Liberty Counsel, and representative of the Pelletier family. If you'd like to see the original article, you can visit www.TheBlaze.com (the link will take you directly to the article).  This helps describe the injustices that have been done to Justina and her family.

The story of 15-year-old Justina Pelletier captured the hearts of many Americans as the horrible story of the young girl’s plight over the past 13 months was brought to light by the media.

Following the advice Dr. Mark Korson, Justina’s treating physician at Tufts Medical Center, Lou and Linda Pelletier took their daughter to the ER at Boston Children’s Hospital. But there, a new doctor, seven months out of medical school, disagreed with her treating physicians and changed Justina’s diagnosis to a mental rather than a physical condition.

When the parents refused to sign a new treatment plan that would preclude them from seeking a second opinion, the hospital called in the Massachusetts Department of Children & Families (DCF) and prevented the parents from discharging their daughter and taking her back to Tufts Medical Center. For the past 13 months DCF has taken custody of Justina, making her a ward of the state and, thus, eligible for research by the Boston teaching hospital.

DCF also obtained a gag order preventing the parents from speaking to the media. Watching their daughter’s health decline and with no progress on the case, Lou spoke to the media. DCF then sought to hold the father in contempt of court. That is when Liberty Counsel came to the aid of Justina and her family.

Within four days after Liberty Counsel joined the case, DCF began to backpedal. Yesterday the court approved an agreement to (1) drop the contempt charges against Lou Pelletier for speaking to the media, (2) dissolve the gag order, and (3) transfer Justina’s medical care to Tufts Medical Center where Dr. Korson, a specialist, had been treating her for mitochondrial disease.

But DCF is still holding Justina as a ward of the state. This is the same DCF that has lost 134 children in the agency’s custody. The children of 134 parents are missing, and DCF has no idea where they are located.

As more of the details of this case come to light, people are becoming increasingly outraged. It is unfathomable that this barbaric overreach by a state agency is taking place in America – and in the city that launched the fight for American liberty, of all places.

As a Massachusetts ward of the state, Justina has been refused access to education. She is denied visitation by clergy, with no allowance for religious observances, including Easter and Christmas.

Her sisters have rarely been able to see her, and her 92-year-old grandparents have not seen her for 13 months. Justina’s parents were only allowed weekly visits for one hour – and that under extreme supervision, including a Massachusetts State Trooper. DCF prevented the parents from even having a cell phone to photograph their daughter.

Under Massachusetts law, prison inmates get up to five visits per week, medical care, and education rights. DCF has granted Justina one visit per week, little medical care, and no education, even though she is just 15 years of age.

Justina Pelletier has been treated far worse than an incarcerated felon by the state of Massachusetts!

Plus, unknown to many people, Boston Children’s Hospital is a chartered teaching hospital and is allowed to conduct medical research and experimentation on children who are declared wards of the state. According to Boston’s Children Hospital’s “Clinical and Investigation Policy and Procedure Manual“: “Children who are wards of the state may be included in research that presents minimal risk… or greater than minimal risk with a prospect of direct benefit.”

  

Justina’s abuse as a DCF ward is unfathomable. No 15-year-old should be forced to live under such conditions!

In January 2013, before she was admitted to the Emergency Room at Boston’s Children Hospital, Justina was involved in ice-skating competitions and was in a private school under an Individualized Education Plan (IEP) that was sensitive to her learning disability.

As a ward, Justina’s deficient medical care has left her extremely weak and confined to a wheelchair. Being refused education, she is now two years behind her classmates.

After learning of the Pelletier’s plight and performing our own background investigation of the case, I flew to Boston to represent the family in court against the contempt charges directed at Lou Pelletier for allegedly breaking a court-ordered gag order.

The media scrutiny and legal proceedings have caused DCF to reconsider their course of action and begin to back away from the abusively hard-core stance it has taken on this matter. But make no mistake, DCF must be held accountable!

More than a dozen Massachusetts state legislators blasted the Department of Children and Families for “breaking up” the Pelletier family and decried the ill-advised imprisonment of Justina Pelletier. They are now calling for the House Committee on Post Audit and Oversight to launch a full-scale investigation into DCF’s handling of the case.

The idea of a medical facility removing a child from a loving family – a family in which there is no history or evidence of abuse of any kind – is a chilling thought.

This poor girl and her family have been through hell. DCF should be held accountable for this flagrant violation of its authority and abuse of government power.

Free Justina

I was just telling someone about my blog and sending them a link when I realized that it's been over a month since I posted.  Then I realized something else... I have not posted on my blog about something that I have been very passionate about for the last 3 months that I NEED to share with everyone.  I am so mad at myself for not doing so earlier. I guess I just need to get back into the habit of posting on my blog every couple of weeks again.

For the last few months I have been very involved (as much as I can) in supporting a family who has been going through hell for over a year.  Justina Pelletier has been held hostage and tortured for the last 387 days.

It's a bit of a long story, but here's the cliff's notes...

Lou, Linda, and Justina Pelletier

Justina Pelletier is a 15 year old girl from Connecticut who was diagnosed with Mitochondrial Disease about a year and a half ago by a highly respected physician, Dr. Mark Korson, who specializes in mito and other metabolic diseases at Tufts Medical Center. Justina's sister was diagnosed before she was. In Feb. 2013, Justina's parents, Lou and Linda, took her to Boston Children's Hospital (BCH) because she was not handling a bout of influenza well, as is the case many times with Mitochondrial Disease patients.  The doctors at BCH disagreed with the diagnosis and instead believed that Justina has a psychiatric illness called Somatoform disorder.  They decided to take her off of all medications she'd been prescribed and only treat her psychologically.  Two of those medicines were for dysautonomia (elevated heart rate, low blood pressure, dizziness, syncope, etc.) and one was for the pain caused by mito.  When Justina's parents chose to take her elsewhere for a second opinion, DCF was called and ended up taking custody of Justina. Since then, she has been held at Boston Children's Hospital in the psych unit for 12 months, followed by almost 2 months at a step-down psych facility, where she sits today.  This psych facility does not provide medical care.  They will not even take patients with medical problems.  However, they admitted Justina to their facility.

For the last year, Justina has not had any medical care (not counting psychiatric), education, or access to friends or hobbies.  She has only been permitted to see her parents for 1 hour and talk to them on the phone for 20 minutes each week.  In December of 2012, shortly before her admission in Feb. '13, Justina was ice skating.  She is now completely wheelchair bound.

In addition to being taken off of her medications, not receiving an education, and being permitted to see her family for just one hour a week, Justina has been "tortured" in many other ways.  One of the primary problems Justina has is GI dysmotility.  That was the reason for 4 of the 5 procedures/surgeries she's had that the doctors at BCH thought were excessive, despite being ordered by the doctors at Tuft's medical center. While in Boston Children's Hospital, Justina was made to sit on the toilet for 2+ hours at a time to get her to go to the bathroom because they think it's all psychological.  The people "caring" for her have not flushed her G tube, which is necessary daily. Want to hear more about the abuse and torture she's received?  Watch Justina's dad, Lou Pelletier discuss it HERE.  (If you don't like Glenn Beck, get over it because he's the first national reporter willing to interview Lou.  This isn't about politics.  It's about Justina.)

The Pelletiers have now been to court too many times to count.  For a long time they were fighting this battle on their own.  Then the mito community and a few other concerned parents got involved.  With the mito community being as small as it is (it is a rare disease after all), we weren't getting very far.  That's not for a lack of trying, though.

Many months ago the judge overseeing the case placed a gag order on the Pelletiers, DCF and BCH.  Because of that gag order, Lou and Linda have been unable to talk to the media about the case.  After Justina had been out of their care for over a year, he finally decided to break the gag order and suffer whatever consequences came with doing so.  Lou was ready to do whatever he needed to to get his daughter back, before it's too late.  That is why you can see interviews with Lou all over the place now.

Because of the national coverage Free Justina now has thousands of supporters.  Everyone is pitching in to help.  I believe that the public outrage over this case has made a difference.

As I mentioned above, Justina is currently at a step-down psych facility near Boston, MA, an hour and a half from the Pelletier's home in CT.  At the Feb. 24th hearing, the judge ordered Justina to be transferred to a foster care facility in Merrimac, MA., 2 hours from the Pelletier's home.  Luckily, due to the pressure of the public, that didn't happen.  Justina is still at the psych facility.  While we don't want her there, we really don't want her in foster care.

The most recent news is that 2 Massachusetts reps have created a resolution to release Justina.  A total of 16 reps are backing the resolution as of right now.  The next informal Mass. House of Representatives session is Wednesday, March 5th.  The next court hearing is scheduled for March 17th.  So now we wait.

At age 30 I was diagnosed with Mitochondrial Disease. Prior to getting sick I was an ER nurse and an avid runner.  I know what this disease does to a person. Living with an illness like this is very difficult and very isolating.  I cannot imagine having to go through this without my husband and kids. Justina is a 15 year old child who is going through it without her family to comfort her and help her through it. As the mother of 2 girls, 15 and 7 years old, I also can't imagine losing custody of one of my children for over a year just for trying to get her the best medical care possible.  

Parents and patients should not be punished for requesting to seek a second opinion.  We should not be punished for being very involved in our child's care and worrying that a specific doctor or medical facility is wrong.  Doctors are human and make mistakes too. How is it that in America parents are not allowed to seek a 2nd medical opinion without repercussions???  Are we not allowed to choose which grocery store we want to go to or which massage therapist to see?  Then why is it a crime to request a different doctor or medical facility?

Want more information?

You can read a more detailed version of the story on the Boston Globe's website here.

Many people are saying, “There has to be more to the story that we’re not hearing.”
- There is NOT more to this story or "another side." Many experts and reporters have dug into this story with the same questions and found this horrific nightmare to be TRUE. The Pelletier's are a good family who are desperately fighting for their child to be back home...before it is too late.

Want information about Justina as it happens?
- For up to date information as the story unfolds, like Beau Berman's facebook page, reporter with FoxCT. He was the first reporter to release the story to the public and keeps up withe everything that happens.
Here’s a link to that page -https://www.facebook.com/BeauBermanFOXCT

Want to see all 19 reports by FoxCT about Justina Pelletier since Nov. 18th?
- Visit - www.foxct.com

Want to know how you can help?

- THE MOST IMPORTANT WAY YOU CAN HELP - The Pelletier's have been financially drained fighting this for over a year now. PLEASE DONATE at www.freejustina.com Anything you can donate will help! Even if it's just $5!! Thank you!!

-Keep hashtagging ‪#‎FREEJUSTINA all over social media (facebook, twitter, etc.)!! Add links to articles about Justina. We need to keep this fire burning! Please don't let it burn out!!
SHARE! SHARE! SHARE! SHARE! Spread the word!!!

-Join the Facebook page "Free Justina Pelletier from Boston Children's Hospital" at  www.facebook.com/groups/freejustina/.  This is where you will find all the chatter surrounding this case.

- There is a phone call campaign to notify all people involved, no matter how much or how little. Visit www.callsforjustina.com to find an updated list of who to call to help free Justina.

- Please sign the Whitehouse petition at Whitehouse.gov
For those of you worried about the government having your name, email, & city...you think they don't already have that info? Please help! We have a long way to go still! Share it all over!

- You can also sign the petition at The Petition Site


If you have any questions, don't hesitate to comment here and I'll do my best to answer them.  Don't forget, no anonymous comments.  Sorry!

Thank you, as always, for reading.  And, most of all, thank you for taking the time to do one or more of the things listed above to help get Justina home.

What does sick look like?

There is a lot of discussion regarding people who are chronically ill "looking" sick.  People who aren't sick tell us that we don't look sick all the time.  I hear from people with POTS/dysautonomia, mitochondrial disease, and others who're disabled from different medical problems that they have heard that statement.  We get looks when parking in handicapped parking.  We have problems getting disability.  We have difficulty getting support from family and friends.

That leads me to one question...

What, exactly, does sick look like? 

This is my favorite

Does someone with diabetes look sick?  They have a lot to deal with everyday.  If they don't take their insulin at the right time, eat the right foods, take too much insulin, take too little insulin, exercise too much, etc. they can wind up in the hospital.  But by looking at someone with diabetes, can you tell?  They may have an insulin pump or scars from all of the needle sticks but you can't see those things if they're dressed.  Are they sick?


Does someone with congestive heart failure (CHF) look sick?  They get short of breath with activity and can have swelling in their legs and feet. They could go into the hospital at any minute. But by looking at someone with CHF, can you tell?  While clothed you can't see the swelling and you can't "see" shortness of breath.  Are they sick?

What about Multiple Sclerosis?  People with MS can have a wide array of symptoms, many of which occur in mito as well.  They, many times, have to use a wheelchair to get around.  But, without the wheelchair (or even with the w/c), can you tell?  Can you see the pain, numbness, and tingling?  Can you see the bowel and bladder problems?  The muscle weakness?  Are they sick?


And how about Mitochondrial Disease?  People with mito have a wide array of symptoms, just like those with MS.  We have extreme fatigue, muscle weakness and pain (many times severe), slow or no GI motility (movement), problems with vision or hearing, failure of the autonomic nervous system (which causes a wide array of symptoms itself), and many more.  Many of us have to use a wheelchair to get around, at least if we want to get very far we do. (I'm included in that group.)

...and a lot of alcohol and some acting
classes and I'll be sick for the next
2 days.

Due to my illness I have a port a cath for IV fluids and an intrathecal pain pump implanted in my back, both of which stick out and are visible when I don't have a shirt on. I have a scar of my leg from the muscle biopsy, two large ones on my back from the pain pump, and a small one above the port.  I also use a wheelchair to get around. In addition to all of that, many people with mito have a G/J tube (feeding tube).  Aside from the wheelchair, none of those things can be seen with my clothes on.  Anyone with Mitochondrial Disease could get ill and be in the hospital any minute.  But by looking at someone with mito, can you tell?  (Evidently not since I've been told many times that I don't look sick, despite using a wheelchair.)  Are we sick?

So, if none of the people with diseases mentioned above look sick, what exactly does sick look like?  If you're sick does that mean you always look pale?  Do you have to be missing your hair?  Do your eyes have to be sunken in with dark circles underneath?  Do you have to be emaciated?  Do sick people have to frown and look miserable ALL the time?  Do you have to be so sick that you can't get out of bed 100% of the time?

I've felt this way before.

If the answers to those questions are all "yes", then that means that you're only sick if you are actively dying or going through severe chemo and radiation due to stage 4 cancer.  If neither of those are true, then you must not be sick because you don't look that way.


Everyone needs to learn that it is almost insulting to say "You don't look sick" to someone who is sick and feels sick every day of the week.


And in case you need a reminder of the other things not to say to someone with a chronic illness...

You'd be surprised how many times I've heard these statements or something similar.

Sorry for all the pictures... I just couldn't choose.  :-)

I'm back... kind of.

Well, after a LOT of thought and consideration, I have decided to start posting on my blog again.  However, things are going to change a little, as I have changed... a lot.  Many of my posts were there to update people (friends and family) of my condition.  However, as I have learned that people's love is, many times, conditional and sometimes faked, I will no longer be posting to update anyone on my current condition.  The people who really care, will find out because they live with me or talk to me regularly.  They can just ask me in person.  Now, there will, of course, be discussion about how I'm feeling or the ways this disease is affecting me.  That's what this blog is all about.  However, I will not post for the sole purpose of updating people.

On the other hand, many of my posts have been written and posted for the purpose of educating others about Mitochondrial Disease, dysautonomia/POTS, and the ways those diseases affect me.  That is the reason why I'm going to blog again.  I have had quite a few people email me or comment on my blog saying that it has helped them over the last couple of years.  The other day I came across one of my blog posts on Pinterest. (and no, it wasn't someone I know)  I think that's what made me finally decide to start posting again, after going back and forth about it for the past month.  I am not going to let a few former family members words keep me from helping others.

Unfortunately, I've had to make another change.  Awhile back I changed my comments settings so that I moderated them before they could be posted.  However, I've learned that that's not enough.  A former family member was using the anonymity of the internet to say unsupportive and hurtful things to me.  So, because of that person, I have had to disable the ability to post anonymously.  Because she is too cowardly to say those things to my face or even just using her name on the internet, I believe that those comments will stop if I disable the anonymous posting.  I cannot and will not deal with someone being unsupportive and hurtful.  So, I am sorry that everyone else has to deal with signing up for a service they might not want to sign up for since I'm not allowing anonymous posting.  It's another case of one person ruining it for everyone else.

So, welcome, or welcome back.  I hope everyone's having a good, spoon-filled day.  If not, I understand and I hope you have a good day soon.  

My Last Blog Post

This is my last blog/facebook post.

I have finally hit rock bottom.  I’m done.  I can’t do it anymore.  I have been holding myself up by a thread for a very long time and that thread finally broke earlier this week. 

Am I going to leave this world by my own hands?  No.  There are 3 people in this world who would be greatly affected if that were to happen, my husband and my two daughters.  That is the reason, the only reason, why that will not happen.

However, I don’t have it in me anymore to continue fighting.  I have been fighting for 3 and a half years now and it has gotten me nowhere.

No one has any idea how hard it is to live, day in and day out, feeling physically and mentally horrible.  I have to fight to get out of bed.  I have to fight to have relationships with friends and family.  I have to fight to care for my children.  I have to fight to be a good mom, wife, friend, daughter, cousin, etc. I have to fight to keep the tears away everyday and put a smile on my face for everyone else to see.  It takes twice as much energy as it ever did when I was healthy just to live my life.  Every day is a fight and I can’t do it anymore. 

I try and try and try but no one but me sees that.  If they do, I wouldn’t know because the only things I hear about are the negative things I do.  (Except for the occasion facebook friend that I’ve never met in my life giving me praise.)

I have tried to ignore how miserable I am.  I have tried to be positive since that’s what everyone thinks I need to do.  I put on a fake smile and act like everything’s okay… like I’m okay.  I pretend that I don’t hate my body because of the way I feel and now look.  I pretend that I’m okay with being fat since “it’s not my fault since I can’t exercise in any way (even a walk around the block)”.  It IS my fault.  I eat like crap.  Why?  Because I am miserable… physically AND mentally.  That smile on my face is fake.  I can count on one hand, and still have fingers left over, the number of days I’ve been genuinely happy in the last 3 ½ years. Any other time there’s a smile on my face it’s all an act. My husband has told me I should win an Oscar since he’s the only one who can even come close to knowing how I actually feel.

I have tried to find things to do to make me happy.  I have tried to make my life worthwhile.  As a nurse I loved to help people.  I still do.  That’s why I still try to help others all the time.  That’s also why I have spent hundreds upon hundreds of hours, no matter how horrible I felt, trying to raise money for the charity UMDF.  Would it benefit me if they found a treatment/cure?  Sure.  But I’m always thinking about all of those children and others who are suffering from this disease more than I am, or those parents who have lost a child to Mitochondrial Disease.  Since my diagnosis, I have raised over $15K for UMDF.  That doesn’t count the fact that I planned the charity walk with little help last year but still raised over $47K ($20K more than what was raised the previous year).  This year alone I have planned and will implement 4 different fundraisers. I also tried starting a business by selling my homemade jewelry.  I even donated 20% of my proceeds to UMDF, despite the fact that my husband and I need the money for medical bills, medicines, etc.   All of that while dealing with a disease that makes me feel physically and mentally ill on a daily basis, with more bad days than good.  But none of that matters.

I have tried to improve relationships with friends, family, etc. since one of the biggest problems I’ve had since I got sick is relationships with others.  I quit talking about my disease and how I feel because I didn’t think others wanted to hear it.  I make myself sick to help other people in their lives.  I do things that I don’t feel well enough to do so that I don’t have to bother others for their help. 

I didn’t start out this way.  However, over time I thought that maybe the lack of support was because of me… something I was doing.  So I changed.  I tried my best to pretend that I wasn’t sick.  I thought, “I can’t change everyone else, so I’ll change myself to make things better.”  I thought that maybe if I treated everyone the way I would want to be treated that I would get the same in return.  Maybe if I go out of my way to help others, despite needing help myself, then others would be there for me.  You know the old saying, “treat others the way you would like to be treated.”

I was having difficulty getting support from friends and some of them (anonymously via my blog) blamed it on me.  So I took it to heart.  I decided that I would concentrate on becoming a better friend myself.  My friends were rarely contacting me so I decided to contact them all the time, no matter how much that hurt my self esteem.  My friends weren’t coming around to help or support me, so I tried harder to do so for them (new and old).  I even made a new friend around that same time.  I went above and beyond for this person thinking that maybe it was just too late for the others.  That I had done something (I never knew what, though) to make my friends not want to be there for me.

None of it mattered.  No matter what I’ve done, nothing changed.  I have lost 3-4 friends since I decided to change the way I did things.  Two of which I just stopped trying and I, therefore, never heard from them again.  The third, I let her know that I couldn’t keep going through a one sided friendship.  That’s the friendship that I put my all into.  I ignored how I felt in order to make sure I was a good friend for her but never felt love or support in return.  I just couldn’t keep doing it anymore.

That’s just my friends.  Then there’s family.  Oh, lovely family.  You know… the people who are supposed to always be there for you when times are tough… the people who are supposed to be there for you when no one else is.  Well, in my family that’s a crock of shit.

I go months without seeing most members of my family.  Many of them would go 6 or more months without even asking how I’m doing if I didn’t initiate the conversation.  I’m not even talking about how long many of them go without helping.

Don’t get me wrong, there are many family members who do help.  However, I have learned that for some of them, close ones, that help is conditional and will most likely be used against me at one time or another. 

I do not want help from anyone.  I never have.  Unfortunately, we have needed it.

However, from now on, we will very rarely be accepting help.  I have learned that even those who I think are helping for the right reasons are not… that the help that we’ve received will only be held over our heads later.    

I do NOT want help from anyone, anymore.  We will find a way to do it on our own.  If receiving help from people means that I am then expected to be a doormat and let that person treat me however they please, I’ll pass.  Whether I do well or not without their help, I don’t care.  I do not want to ask for help and I especially do not want it if it’s conditional.

Recently I have decided to stand up for myself.  I was tired of always being a doormat so that people would be there for me.  Especially since nothing had changed.  No matter how good of a person I tried to be, it wasn’t good enough.   Evidently since I have received help from others I have to bend over and take whatever they want to give to me.   I’m not allowed to say something wrong, even if I admit it later and take it back.  I’m not allowed to be in a bad mood, you know, since I feel so wonderful all the time and my life is exactly what I want it to be.  If I receive help from family and/or friends, I have to be the nicest person in the world and never stand up for what I believe in because that might upset the people who have helped me.

Well, standing up for myself, as I’m sure you’ve guessed, has only caused me more problems.  That’s how I found out that much of the help I’ve received in conditional.  Of course, it was all done with love, but it’s conditional none-the-less.

I’ve been blamed for being heartless and uncaring.  I’ve been told that I shouldn’t be mad at people who have helped me.  I’ve been accused of being after people for their money (despite the fact that 100% of the money that I have received or would have received from that person went to charity).

I’ve learned that it’s all my fault.  It’s all me.  I’M the problem.  I should never have stood up for myself or my kids.  I should never be upset when people who I think care about me do something to hurt me, whether it's once or over and over and over again.

I’m sorry for doing everything I’ve ever done.  I’m sorry for standing up for myself, my kids, and the things I believe in.  I’m sorry for needing and accepting help.  I’m sorry for not letting people treat me however they want.  I’m sorry for being in a pissy mood 25% of the time that I should be in a pissy mood.  I’m sorry for being upset when people shit on me.  I’m sorry for needing help and support.  I’m sorry for accepting help.  I’m sorry for not being positive all the time.  I’m sorry for not being a better person.  I’m sorry for becoming fat and unattractive.  I’m sorry for not handling my shitty life the way others think I should.  Mostly, I’m just sorry for being me.

However, I’m sure the entire paragraph above will not show up because I never say I’m sorry.  I never admit that I’m wrong.

I will not leave this world on my own accord, no matter how much I want to.  I will not do that to my children or my husband, the 3 people who I believe love me unconditionally. Maybe my kids would be better off without me since I’m a shitty mother, but this is the decision I’m making for now. However, in the amount of time that I have left on this earth, which will not be until I’m old and grey because of my disease, I will no longer be trying to have or maintain relationships with people, try to help people, raise money for charities, or try to make myself a better person. I will live, day in and day out, just going through the motions.  I don’t have the energy or desire to do anything else anymore. 

(I have made a commitment to co-chair this year’s EFL walk and I will follow through on that commitment.  However, I will not be doing anything for my own team anymore.   If people truly want to donate and/or walk, they will do it without me hounding them constantly to do so.  I won’t be holding my breath for that anymore.)

FYI…  This post is directed at no one particular person.  This post is directed at everyone in my life.  There are many different people and situations that I refer to in this post.  If you feel like you’re one of them, you probably are.  I am also not posting this for attention as I will not be reading comments, texts, emails, etc. anyway.  So do not bother.  This post is not intended to start/continue drama.  This post is for informational purposes only for those who give a shit or want to continue pretending to give a shit, as they have for many years.  So if you don’t hear from me, or hear back from me, you now know why.

The Ring Theory

I was browsing facebook today and came across a post from a facebook friend of mine who also has Mitochondrial Disease.  She has a daughter with the disease as well.  We have talked many times and I really look up to her for how well she handles everything that she has to deal with.  I know I have a very difficult time with my disease and the effects it has on my life and the lives of my family.  However, she has to deal with twice as much since she's not the only one sick and in a wheelchair, her daughter is as well.  She is frequently posting things on facebook that she has read that are very insightful.  This is one of those times.

I'd like everyone who reads my blog to read this article - http://articles.latimes.com/2013/apr/07/opinion/la-oe-0407-silk-ring-theory-20130407

We've all heard of the spoon theory by now.  This article discusses the Ring Theory.  The spoon theory is all about energy and how it's used.  The ring theory is about what we say to other people who are going through a difficult time.  Everyone needs to read the article and take its advice, some more than others.

Why am I even doing this?

Well, I haven't fallen off the face of the earth.  I have wanted to many times in the last couple of months, but, regardless, I'm still here.  It's been 6 weeks since my last blog post.  No, I haven't been too sick to post.  I haven't been too busy to post.  It's not that I haven't had anything to say either.  Honestly, I just haven't felt like it.  Every time I've thought about posting something that's on my mind I've thought, "why bother?"

To be honest, I haven't been myself in the last couple of months.  Of course, one could say that I haven't been myself in the last 3 1/2 years (in case you can't put two and two together that's how long I've been sick).  However, in the last couple of months I haven't even been the new, non-improved, me.  I have gone in and out of the various stages of grief since I became ill.  Depression has, of course, been the prominent one.

Just 7 or 8 months ago, maybe more, I had finally hit acceptance.  I was finally settling into my new life with mito.  I had realized that this is my life and it always will be, no matter what I do.  I was caring about my looks again and wearing make-up on a regular basis.  I was scheduling dates with my husband and going shopping for some nicer clothes.  I was also working on getting my jewelry business up and running.

Unfortunately, that all changed.  Was it something drastic?  No.  It was a slow process.  I know that the death of my grandfather had a big impact on me.  However, that's not the definitive reason why I am now depressed.  I can't give you a definitive reason.  Maybe it's because I'm sick and tired of being sick and tired.  Maybe it's because I'm in pain all the time and it never goes away.  Maybe it's because my support system is getting smaller and smaller and has practically disappeared over the years.  Most likely it's all of the above.

I can tell you that the one thing that bothers me the most, as always, is the lack of support, friends, etc.  I know, I know.  I sound like a broken record.  That is the main reason why I haven't posted.  I'm sure everyone's tired of hearing me talk about my lack of support, friends/family that aren't there for me, and how lonely I am.  That's why I've chosen not to post.  I always post what's on my mind and that's been the majority of what's on my mind over the last couple of months.  So if you're tired of listening to the broken record, stop reading now.

The one thing I need more anything right now is someone to come tell me it'll all be okay... someone to hug me and tell me that they're there for me... someone to call me more often than once every couple of months to ask me how I'm doing.  It all boils down to needing to feel loved and cared about.  That's something I haven't felt much of recently.  And that fact has put me into the downward spiral of depression that I'm in right now.

Not only have I not had what I mentioned above, I've had the exact opposite.  Just a couple of weeks ago I was hurt, badly, by someone with whom I trusted more than all but one other person in this world.  The things that were said to me were extremely hurtful.  It will take a lot to mend the relationship back to where it was originally.  And, like I said, this was someone that I trusted.  Someone with whom I never would've thought would hurt me and say things like that to me.  But, it is what it is and I must now deal with one less close relationship in my life.

Maybe the lack of close relationships (friends or family) is my fault.  Trust me, I'm aware of that.  What I'm not aware of, however, is what I am doing to make people not want to be around me.  Is it because I'm not positive all the time?  Is it because the only thing I am able to do most of the time is hang out at my house and, therefore, cannot come to other people's houses, go out to eat, or go to a bar?  Is it because I'm not fun to be around anymore?  Is it because I'm irritable and cranky a decent amount of time?  Is it because I'm no longer beautiful since I'm fat now so people don't want to be seen with me?  Or is it because I expect too much out of my friends and family?

You know, being ill 24/7 is SOOOO much more difficult than people can even imagine.  So, no, I'm not positive all the time.  It's easier to be positive when you know people care about you.... and show it.  I can't help the fact that I have to spend most of my time at my house.  I want, more than anything, to go out with friends to do things or to go to their house instead of mine.  However, I want to have the support of friends/family without it making me sick in return.

I admit that I am not as fun to be around as I used to be (especially recently since I've been so depressed, but not many people know what I've been like recently).  I know that I am cranky and irritable many times.  I try my hardest to not be that way even when I'm in horrible pain, nauseous, too weak to lift my arms or legs, extremely fatigued or all of the above.  Most people wouldn't be able to put on the act that I put on for others when I'm feeling bad.  If people think I'm cranky or irritable now, they should see how I would act if I didn't try to hide it.  I'm gathering that no one thinks about how I must be feeling when I'm being irritable.  People just immediately think that I'm just a bitch because that's who I am or take it personally.

Lastly... do I expect too much out of my friends and family?  (This is the big one.)  Is it too much to ask that I want to hear from my friends (in any way - text, email, phone call) at least once every couple of weeks?  Am I expecting too much out of friends and family because I thought they could help out once a month or once every other month?  There are so many ways that we could use help too.  It doesn't have to be anything huge... i.e. bringing us a meal, taking me to a doctor's appt, watching the kids so my husband can have a break every now and then, transporting my daughter to and from soccer practice, come over and keep my company for a few hours to help keep the loneliness away, etc.  Am I asking too much of my friends and family when I ask them to participate in a fundraiser once a year?

I have never thought that I was expecting too much out of people.  I guess that's because I would do all of those things and more if the roles were reversed.  Hell, I DID do that much for my grandfather and I'm dealing with being sick myself.  So, I guess I've always thought that if I could do those things for my grandpa despite needing help myself, then why can't my perfectly healthy friends and family do it for me?

Well, I think this is my main problem when it comes to relationships.  I'm sure the other things I listed play a part as well.  However, I've always wondered if this is the case.  BUT... before you say, "then lower your expectations", let me say, "I don't want to."  If the expectations I have of my friends and family are too high, then I guess I won't have friends and family (I know, they're still my family but that doesn't mean I have to have a relationship with them).  I don't want friends like that.  If it's too much to ask for my friends to do the things I mentioned above, then I'd rather not have friends.  In fact, I've stopped talking to a couple of people for that exact reason...

If I'm asking too much of my friends and family, why are there hundreds of thousands of people out there who have friends and family who treat them the way I want to be treated?  Why are there pictures like the ones below that describe EXACTLY how I'm feeling it should be?

I wish this were true.

And this one.

I do try.  I try and try and try to have a good relationship with my friends and family.  I'm not just sitting here expecting everyone else to do all the work.  I am constantly trying my best to be a good friend.  Unfortunately, my best isn't good enough.  My best does include periods of irritability.  My best does include not being able to get out and do much outside of my own home.  I am constantly trying to make other people happy.  Unfortunately that's not easy for people to see.  Why?  Because for me, going out of my way to do something for a friend may look like a normal thing for someone else to do.  For me, doing something like buying a birthday card for someone means going out of my way for that person.  Where as for a normal person, buying a birthday card and putting it in the mail is no big deal.  (I won't get into the details of how much energy it takes just to go to the store to buy a card and put it in the mailbox... but it takes a whole hell of a lot of spoons.)  So people may not think I'm doing much for them as a friend or family member when I feel like I'm climbing Mount Everest.  Something as simple as baking and decorating a birthday cake or cupcakes may not seem like that big of a deal to most people, but to me, it's huge.  Doing something like that, which I've done a couple of times for people I care about, makes me sick for days.  Why would I do that to myself?  Because I care and I want to help others and make them happy.  But it never seems like it's enough.  Despite all of the effort I put into my relationships, I don't feel like I get it in return.


After being depressed for many months now and many sleepless nights spent thinking, I've realized that nothing's going to change. And I can't make it all go away, like I've thought about many times, because I wouldn't be that selfish to my daughters.  My friends and family are who they are.  I can't make them give a shit.  If my friends make it apparent they don't give a shit, they are no longer my friends.  I have stopped talking to a few people over the last year because of that exact reason.  I'm not going to put my all into a relationship to get nothing in return.

I've decided that the only thing I can do is change myself.  I can no longer rely on the comfort of others around me to make me happy. When I do I'm only let down and hurt.... over and over again.  My entire life I've liked to be around people.  I like to interact with others.  It makes me happy.  That's going to have to change.  I'm also going to have to realize (which I should've done a long time ago) that the people in my life aren't going to help, visit, or call on a regular basis.  And some of the ones who do are going to hold it over our heads that they do help.

So, the one thing that I'm going to change in an attempt to make this horrible emotional pain stop is my thoughts about others.  I now know that, aside from my husband and children, I am pretty much alone in this journey.  It's not that I'm changing my expectations of my friends and family, because in my heart I know that that's what family who cares and true friends do for those they love; I'm just realizing that many of the people in my life are unable to be the friend that I need.  I have held on to the hope that everyone would change and be the loving, caring, helpful people that I need.  After 3 1/2 years I need to realize that if it hasn't happened yet, it's not going to happen.  There are a couple of people who have been there for me physically and emotionally.  Aside from them, I just need to quit holding out hope that the other people in my life will change.

Does this revelation change things?  Not really.  It's almost more depressing.  At least before I still had hope that people would be there for me and I would eventually have the kind of relationships that I dream about having.  Now I know that that's not going to happen.  It helps in a way because I won't keep getting let down by the people in my life.  But it also hurts.  When I get down because I am lonely or need help, I can no longer think, "maybe someday this person will visit me more often, or that person will help more often."  I, instead, just have to come to my senses and realize that that's not going to happen and my life is the way it is.

I can't say how much I will be posting in the near future.  It took a lot just to post this one.  I still have that feeling of "why am I even doing this?"  Of course, that has applied to a lot more than just writing in my blog lately.... such as life....

Why am I even doing this?

My Story

Over the last 3 years I have written about my journey through my illness on this blog.  However, I have never written the entire story about my my health problems, diagnosis, testing, etc. all in one place.  If someone wanted to know they'd have to take bits and pieces from multiple different blog posts and put them all together.  Since I have had many people ask me and/or I've had plenty of situations come up in which it would be nice to have, I thought it would be a good idea to write the cliff's notes of my journey (or at least the medical aspect of it) all in one place.

So, without further ado, here's my story...

The "Before" Picture
Kansas City Half Marathon - 2008

The Start of it All -

In July/Aug. of '09 I started to develop headaches. They quickly became daily headaches that continued to get worse.  That was the first thing that prompted me to see a doctor... or numerous doctors.  In Dec. '09, I actually stopped working to find the cause of my headaches.  At that time I thought it was temporary until I found the cause of my headaches and got them taken care of.  However, within a couple weeks I started developing symptoms of POTS (Postural Orthostatic Tachycardia Syndrome): tachycardia (extremely elevated heart rate), fainting, shortness of breath, dizziness, exercise/activity intolerance, etc.  I ran a half marathon in October and couldn't walk up a flight of stairs without getting short of breath by December.

Getting a Diagnosis -

I saw numerous doctors here in town who could not figure out what was going on.  I had test after test after test.  I even had a 24 hour stay in the hospital because my cardiologist wanted to get things done faster since I was getting worse, not better.  My cardiologist diagnosed me with POTS but he truly believed something else was going on.  He helped me get into the Mayo clinic in March of 2010.  The autonomic specialist at Mayo diagnosed me with POTS.  The main symptom I had at that time that couldn't be explained by POTS was my muscle pain.  She just blew that off.

They sent me home with a regimen of slowly increasing exercise that would "cure" my POTS.  However, exercise did nothing but make me feel worse.  I would be practically unable to move for 2 days after 5 minutes of exercise.  I called the doc at Mayo a couple of months after I was there and again 2 months after that.  I was trying to explain to her that the exercise only made me worse, not better and my muscle pain was getting worse.  When I was there in March '10, she, and the cardiologist I saw at Mayo, both said that if the treatment plan they gave me did not work to call them and they would get me back in to see them again.  However, when I called the autonomic specialist just said that the pain was probably just fibromyalgia and if I came back she would just send me to an internist who specializes in fibromyalgia.  I even brought up mitochondrial disease to her and she said that since my emg was normal there was no way I had mito. (An EMG means nothing when testing for Mitochondrial Disease.)  Well, needless to say, I have not spoken to or seen anyone at Mayo again.

I had brought up mitochondrial disease to the doctor from Mayo because I had done a little bit of research on the topic.  I knew in my heart, and because of my intuition, that POTS was not the explanation for all of my symptoms.  I started researching diseases that have dysautonomia as a symptom instead of the primary disease.   Everywhere I looked, mito seemed to be the answer. I ended up talking to someone from a message board for dysautonomia who was diagnosed with mito after he was diagnosed with POTS.  His symptoms and experience were very similar to mine.

And "After"

The man I talked to was very helpful and gave me a lot of information.  He saved me a lot of time in research.  He gave me the name of a doctor in Atlanta who specializes in mito.  He also discussed with me the difference between frozen and fresh muscle biopsies.  Armed with all of this information, I saw a neurologist at the local university medical center.  I got his name from the MDA website (http://www.mdausa.org/locate/).  That site is supposed to give you the name of a doctor who is familiar with all of the diseases on the mda spectrum.  However, I learned that the doctor I saw based on the information on the mda website was not very familiar with mito at all, even though it's one of the diseases covered by mda and mda clinics. The purpose of my visit was to get an order for a muscle biopsy.  He actually suggested it before I did so I was glad.  He suggested a doctor in Texas but I wanted to see Dr. Shoffner based on the recommendation I talked about above.

It took a few months to get in with Dr. Shoffner.  I had seen the mda doc in Aug. 2010 and I got in with Dr. Shoffner in Dec. '10.  At that time I had a fresh muscle biopsy, an exercise test, and a bunch of lab work.  I returned in March '11 for the results.  That is when he informed me that I had mitochondrial disease.  The testing showed a defect in Complex I and Complex III.   You can see all 40+ types of mito here... Types of Mitochondrial Disease  So you don't have to fit into one of the acronyms to have mito.  That's the interesting thing about it.  Everyone with mito is different.... different symptoms, different test results, different age of onset, etc. etc.  

After my appointment with Dr. Shoffner in March '11, he planned on doing genetic testing to find out what gene defect was causing my mito.  That search is still kind of ongoing and here's why...  I finally received the results of that test last December about a week before my appt. with my local geneticist.  That was lucky because he was able to discuss the results with me so I didn't have to return to Atlanta to Dr. Shoffner's office to discuss them.  The genetic defect is in my mitochondrial dna and it usually causes LHON (it's in the list of mito diseases).  However, I don't have any of the primary symptoms of LHON.  I have since been to another mito specialist and she thinks that the defect that was found is not the primary cause of my mito.  It is possible, per the geneticist here in town (not a mito specialist), that I just have different symptoms than most patients with LHON.

Progression and Moving Forward -

Mitochondrial Disease is a progressive condition.  I was told by Dr. Shoffner, the mito specialist, that I would continue to progress until I, eventually, hit a plateau.  I will then stay at that plateau inevitably.  If that is true, I have yet to find my plateau.  I have continued to progress since my diagnosis.  It has not been a rapid progression, thankfully.  Of course, that can be based, somewhat, on opinion.  I have met the mother of a woman who was diagnosed at age 19 and passed away less than a year ago at 24.  She had slow progression, like myself, until the last year or so of her life.  All I can do is hope that that won't happen to me.

In August 2011, I got my electric wheelchair and was finally able to go shopping or do other things that required standing or walking further than a few feet.  By that time I had already been using a chair in the shower as I was unable to stand long enough to shower.

In September 2011, I started developing a new problem/symptom: GI dysmotility. My gastrointestinal system was starting to slow down... quickly.  Ha!  It was slowing down quickly.  I'm so funny.  Okay, moving on from my not so funny joke...  I started seeing a GI specialist and getting tests done.  I had multiple tests to check the rate of my digestion in my stomach and my intestines, an endoscopy, colonoscopy, and a couple of tests to check the muscle strength of my GI system.  One of the tests I had done was called a Sitz marker test. It showed that it can take up to 19 days or more for me to digest something.  You can read more about my GI tests and problems here and here.

In January 2012, I saw Dr. Fran Kendall, a mito specialist, for a second opinion on my diagnosis and because I wanted a different mito specialist to follow up with other than Dr. Shoffner (I won't get into the reasons why.  If you want to know, email me.)  She agreed with the diagnosis. Shocker!  She also recommended that I start receiving IV fluids a couple of times a week to help keep me hydrated.  Patients with dysautonomia and/or mito need to stay very well hydrated.  Because of my GI problems, I wasn't.  So, when I returned to Kansas City, I had a port a cath placed in my right chest.  I have been receiving IV fluids ever since.

My GI problems have continued to get worse.  In August 2012, I overdid it while planning the Energy for Life walk and hosting another fundraiser.  I wound up in a mito crash (want to know what a mito crash is? - read about it here) that put me in the hospital for 3-4 days.  One good thing came out of that hospital visit.  I am now taking one liter of IV fluids a day due to my GI problems.  I am having constant problems with nausea, vomiting, and chronic constipation. About every other week I go 3-5 days without eating much solid foods.  Right now I am just trying to hold off on getting a g/j tube (feeding tube). GJ tube info

I have been seeing a pain specialist for a couple of years now.  He has kept me on pain medication and medication to stop my muscle spasms and twitching.  But, because I'm going to be in pain for the rest of my life, and because the pain medication has a negative effect on my GI system which is already struggling to work, I am in the process of getting an intrathecal pain pump. Information about the pain pump

So, I use an electric wheelchair to get around.  I have a port a cath and receive IV fluids daily.  I take multiple medications every day.  Soon I will be getting a pain pump and eventually, when my GI problems progress enough, I will need a G/J tube.  I'm going to have a little difficulty going through the metal detectors when I travel.  Hopefully they won't think I'm hiding a bomb inside my abdomen (pain pump) or chest (port a cath).  If you want to know each and every one of my symptoms, I listed them in this blog post - here.

This is my life now.... take it or leave it. (Don't tempt me.. because there are definitely days in which I'd leave it.)

Conclusion - 

So, that's my story.  The condensed version.  I was healthy my entire life until I started developing constant headaches in July/Aug. 2009 at age 30.  The main symptom that did not fit with pots alone is pain; all over muscle pain that got worse with activity.  My pain was also getting worse as time went by.  That was the main thing, along with the fact that exercise made me more sick instead of helping like they said it would, that made ME (not any of my doctors) look at mitochondrial disease.  The biggest thing that helped me?  I followed my instinct!  I left Mayo with a diagnosis of POTS.  My mom and step-mom went with me and were both happy with the diagnosis, treatment plan, and prognosis.  I, however, left there feeling like it was a waste of time.  I KNEW something else was wrong and that was before I started researching mito.

So, mito can start at any age.  I have talked to a lot of adults who have adult onset mito who now have an explanation for all the things that happened to them earlier in life.  I'm not one of those people.  I, on the other hand, grew up without a single health problem (aside from broken bones from my active/daredevil lifestyle) until a ton of health problems hit me like a ton of bricks at 30 years old.

If you have any questions, feel free to ask.  I may have trouble returning emails in a timely manner, but I always return them... eventually.  I'm happy to help in any way I can.